ClinVar Miner

List of variants reported as benign for cataract 22 multiple types by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004076.5(CRYBB3):c.337C>G (p.His113Asp) rs9608378 0.58489
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04364
NM_004076.5(CRYBB3):c.567G>A (p.Pro189=) rs144842183 0.00997
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile) rs4455261 0.00874
NM_004076.5(CRYBB3):c.125C>T (p.Ser42Leu) rs145770544 0.00192
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter) rs147328317 0.00135
NM_004076.5(CRYBB3):c.6G>A (p.Ala2=) rs144393956 0.00119
NM_004076.5(CRYBB3):c.99C>T (p.Asn33=) rs151115623 0.00076

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